PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000224167	[[139871955, 139872144], [139873444, 139873584], [139873674, 139873853], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307], [139876030, 139876193]]	[[139872030, 139872144], [139873444, 139873584], [139873674, 139873853], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307]]
ENST00000457950	[[139871956, 139872144], [139873444, 139873584], [139873674, 139873853], [139874397, 139874514], [139874634, 139874671]]	[[139872030, 139872144], [139873444, 139873584], [139873674, 139873853], [139874397, 139874514], [139874634, 139874671]]
ENST00000371625	[[139871956, 139872144], [139873444, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307], [139876030, 139876190]]	[[139872030, 139872144], [139873444, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307]]
ENST00000371623	[[139871967, 139872144], [139873444, 139873584], [139873674, 139874278]]	[[139872030, 139872144], [139873444, 139873584], [139873674, 139873903]]
ENST00000471521	[[139871969, 139872144], [139873444, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307], [139878020, 139878160], [139878941, 139879015], [139879487, 139879589], [139879848, 139879887]]	[[139872030, 139872144], [139873444, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307]]
ENST00000446677	[[139873263, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307], [139876030, 139876144]]	[[139873263, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307]]
ENST00000460340	[[139873294, 139873584], [139873674, 139874000]]	None
ENST00000492068	[[139873531, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875262, 139875307], [139876030, 139876189]]	None
ENST00000462514	[[139874367, 139874736], [139875284, 139875508]]	None
ENST00000444903	[[139874706, 139874736], [139875131, 139875307], [139876030, 139876193]]	[[139874706, 139874736], [139875131, 139875288]]
ENST00000467871	[[139875284, 139875307], [139876030, 139876190]]	None
NM_000954	[[139871955, 139872144], [139873444, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307], [139876030, 139876194]]	[[139872030, 139872144], [139873444, 139873584], [139873674, 139873751], [139874397, 139874514], [139874634, 139874736], [139875284, 139875307]]

Promoter

Chrom	Start	End	Description
chr9	139869497	139869510	CAGE_peak_12_at_PTGDS_5end
chr9	139869524	139869539	CAGE_peak_7_at_PTGDS_5end
chr9	139871948	139871964	CAGE_peak_1_at_PTGDS_5end
chr9	139873342	139873374	CAGE_peak_6_at_PTGDS_5end
chr9	139873437	139873444	CAGE_peak_14_at_PTGDS_5end
chr9	139873445	139873481	CAGE_peak_2_at_PTGDS_5end
chr9	139873495	139873543	CAGE_peak_3_at_PTGDS_5end
chr9	139873544	139873562	CAGE_peak_9_at_PTGDS_5end
chr9	139874355	139874367	CAGE_peak_13_at_PTGDS_5end
chr9	139874396	139874457	CAGE_peak_4_at_PTGDS_5end
chr9	139874466	139874495	CAGE_peak_8_at_PTGDS_5end
chr9	139874630	139874648	CAGE_peak_11_at_PTGDS_5end
chr9	139874662	139874682	CAGE_peak_10_at_PTGDS_5end
chr9	139874683	139874714	CAGE_peak_5_at_PTGDS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I136963	136963946	136965038	1.42	[{'connected_gene': 'PTGDS', 'score': 15.42}, {'connected_gene': 'PRR31', 'score': 0.77}, {'connected_gene': 'LCN12', 'score': 0.37}]
chr9	GH09I136980	136979969	136980118	0.43	[{'connected_gene': 'LCNL1', 'score': 550.77}, {'connected_gene': 'ENSG00000284341', 'score': 0.77}, {'connected_gene': 'PTGDS', 'score': 0.77}]
chr9	GH09I136959	136959770	136960975	0.31	[{'connected_gene': 'LCN12', 'score': 24.25}, {'connected_gene': 'PTGDS', 'score': 14.74}, {'connected_gene': 'PRR31', 'score': 0.44}]
chr9	GH09I136965	136965382	136966609	0.95	[{'connected_gene': 'LCN12', 'score': 24.93}, {'connected_gene': 'PTGDS', 'score': 15.39}, {'connected_gene': 'PRR31', 'score': 0.77}]
chr9	GH09I137380	137380283	137380628	0.24	[{'connected_gene': 'GRIN1', 'score': 3.08}, {'connected_gene': 'RNF208', 'score': 2.57}, {'connected_gene': 'PNPLA7', 'score': 2.47}, {'connected_gene': 'CACNA1B', 'score': 2.27}, {'connected_gene': 'ABCA2', 'score': 1.49}, {'connected_gene': 'PTGDS', 'score': 1.46}, {'connected_gene': 'GC09M137332', 'score': 0.28}, {'connected_gene': 'EXD3', 'score': 0.26}]
chr9	GH09I137233	137233373	137243238	2.65	[{'connected_gene': 'TUBB4B', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 90.39}, {'connected_gene': 'SDCCAG3', 'score': 59.97}, {'connected_gene': 'ANAPC2', 'score': 50.98}, {'connected_gene': 'NDOR1', 'score': 50.56}, {'connected_gene': 'DPH7', 'score': 40.53}, {'connected_gene': 'INPP5E', 'score': 40.02}, {'connected_gene': 'LOC651337', 'score': 36.84}, {'connected_gene': 'MAN1B1', 'score': 26.89}, {'connected_gene': 'SNHG7', 'score': 26.01}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'EXD3', 'score': 13.5}, {'connected_gene': 'TRAF2', 'score': 10.75}, {'connected_gene': 'TMEM203', 'score': 10.34}, {'connected_gene': 'RABL6', 'score': 10.31}, {'connected_gene': 'NELFB', 'score': 8.98}, {'connected_gene': 'LCN15', 'score': 8.35}, {'connected_gene': 'ABCA2', 'score': 7.81}, {'connected_gene': 'TOR4A', 'score': 6.36}, {'connected_gene': 'UAP1L1', 'score': 6.25}, {'connected_gene': 'RNF224', 'score': 5.79}, {'connected_gene': 'CYSRT1', 'score': 5.23}, {'connected_gene': 'MRPL41', 'score': 5.19}, {'connected_gene': 'ZMYND19', 'score': 4.53}, {'connected_gene': 'PNPLA7', 'score': 3.77}, {'connected_gene': 'TPRN', 'score': 3.5}, {'connected_gene': 'LCNL1', 'score': 3.04}, {'connected_gene': 'ENTPD8', 'score': 2.25}, {'connected_gene': 'RNF208', 'score': 1.83}, {'connected_gene': 'DPP7', 'score': 1.81}, {'connected_gene': 'GRIN1', 'score': 1.71}, {'connected_gene': 'AJM1', 'score': 1.66}, {'connected_gene': 'NPDC1', 'score': 1.59}, {'connected_gene': 'NOXA1', 'score': 1.58}, {'connected_gene': 'PTGDS', 'score': 1.41}, {'connected_gene': 'ENTPD2', 'score': 1.26}, {'connected_gene': 'NSMF', 'score': 1.23}, {'connected_gene': 'SLC34A3', 'score': 0.44}]
chr9	GH09I136524	136524823	136536049	1.61	[{'connected_gene': 'NALT1', 'score': 22.06}, {'connected_gene': 'NOTCH1', 'score': 7.32}, {'connected_gene': 'DNLZ', 'score': 5.47}, {'connected_gene': 'SEC16A', 'score': 4.6}, {'connected_gene': 'AJM1', 'score': 3.28}, {'connected_gene': 'PTGDS', 'score': 2.8}, {'connected_gene': 'LCNL1', 'score': 2.58}, {'connected_gene': 'NACC2', 'score': 1.9}, {'connected_gene': 'CARD9', 'score': 1.5}, {'connected_gene': 'ENSG00000227512', 'score': 0.39}, {'connected_gene': 'MIR4673', 'score': 0.39}]
chr9	GH09I136973	136973802	136977393	0.75	[{'connected_gene': 'ENSG00000284341', 'score': 550.77}, {'connected_gene': 'PTGDS', 'score': 550.77}, {'connected_gene': 'LCNL1', 'score': 11.29}, {'connected_gene': 'PRR31', 'score': 0.44}]
chr9	GH09I136981	136977455	136977514	0.82	[{'connected_gene': 'ENSG00000284341', 'score': 550.77}, {'connected_gene': 'PTGDS', 'score': 550.77}]
chr9	GH09I136979	136978609	136978978	0.63	[{'connected_gene': 'ENSG00000284341', 'score': 550.77}, {'connected_gene': 'LCNL1', 'score': 0.77}, {'connected_gene': 'PTGDS', 'score': 0.77}]
chr9	GH09I136978	136978000	136978518	1.31	[{'connected_gene': 'ENSG00000284341', 'score': 550.77}, {'connected_gene': 'LCNL1', 'score': 0.77}, {'connected_gene': 'PTGDS', 'score': 0.77}]
chr9	GH09I136977	136977909	136977988	0.59	[{'connected_gene': 'ENSG00000284341', 'score': 550.77}, {'connected_gene': 'LCNL1', 'score': 0.77}, {'connected_gene': 'PTGDS', 'score': 0.77}]